We report a 14-year old boy with an unusual presentation of extensive bilateral macular coloboma with planovalgus feet dynamics and left foot drop due to
anterior horn cell disease.
While the presence of reflexes is reassuring, absence suggests a peripheral nerve problem or
anterior horn cell disease.
Although muscle denervation and reduced CMAP amplitudes do not distinguish loss of anterior horn cells from loss of motor axons (15), these patients' clinical features can be explained only by
anterior horn cell disease, since no known infectious processes limited to motor axons produce widespread, asymmetric paralysis without sensory involvement.
Our search for an answer to her worsening condition ultimately led us to the University of Utah and their Primary Children's Medical Center, where the geneticists informed us that Bridget had something called
anterior horn cell disease.
